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Graduate Medical Education (GME): Medical Genetics
Maximilian Muenke, MD
Entry Id: TP-65
Candidates with the MD degree must have completed an accredited U.S. residency training program and have a valid U.S. license. Previous training is usually in, but not limited to, Pediatrics, Internal Medicine or Obstetrics and Gynecology.
The NIH has joined forces with training programs at the Children's National Medical Center, George Washington University School of Medicine and Washington Hospital Center. The combined training program in Medical Genetics is called the Metropolitan Washington, DC Medical Genetics Program. This is a program of three years duration for MDs seeking broad exposure to both clinical and research experience in human genetics.
The NIH sponsor of the program is National Human Genome Research Institute (NHGRI). Other participating institutes include the National Cancer Institute (NCI), the National Eye Institute (NEI), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Child Health and Human Development (NICHD), the National Institute on Deafness and Other Communication Disorders (NIDCD), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), and the National Institute of Mental Health (NIMH). Metropolitan area participants include Children's National Medical Center (George Washington University), Walter Reed Army Medical Center, and the Department of Pediatrics, and the Department of Obstetrics and Gynecology at Washington Hospital Center. The individual disciplines in the program include clinical genetics, biochemical genetics, clinical cytogenetics, and clinical molecular genetics.
The primary goal of the training program is to provide highly motivated physicians with broad exposure to both clinical and research experiences in medical genetics. We train candidates to become effective, independent medical geneticists, prepared to deliver a high standard of clinical genetics services, and to perform state-of-the-art research in the area of genetic disease.
Structure of the Clinical Training Program
This three year program involves eighteen months devoted to learning in clinical genetics followed by eighteen months of clinical or laboratory research.
Six months will be spent on rotation at the NIH. Service will include time spent on different outpatient genetics clinics, including Cancer Genetics and Endocrine Disorders and Genetic Ophthalmology; on the inpatient metabolic disease and endocrinology ward; on inpatient wards for individuals involved in gene therapy trials; and on the NIH Genetics Consultation Service.
Three months will be spent at Children's National Medical Center and will be concentrated on pediatric genetics. Fellows will participate in outpatient clinics, satellite and outreach clinics. They will perform consults on inpatients and patients with metabolic disorders and on the neonatal service. Fellows will be expected to participate in the relevant diagnostic laboratory studies on patients for whom they have provided clinical care.
One month will be spent at Walter Reed Army Medical Center and will concentrate on adult and pediatric clinical genetics. One month will be spent at Washington Hospital Center on rotations in prenatal genetics and genetic counseling.
Fellows will spend one month each in clinical cytogenetics, biochemical genetics, and molecular diagnostic laboratories. The remaining three months will be devoted to elective clinical rotations on any of the rotations previously mentioned. The second six months will be spent on laboratory or clinical research. The fellow will spend at least a half-day per week in clinic at any one of the three participating institutions.
This year will be devoted to research, with at least a half day per week in clinic.
NIH Genetics Clinic (Required)
Fellows see patients on a variety of research protocols. The Genetics Clinic also selectively accepts referrals of patients requiring diagnostic assessment and genetic counseling. Areas of interest and expertise include: chromosomal abnormalities, congenital anomalies and malformation syndromes, biochemical defects, bone and connective tissue disorders, neurological disease, eye disorders, and familial cancers.
Inpatient Consultation Service (Required)
Fellows are available twenty-four hours daily to respond to requests for genetics consultation throughout the 325-bed hospital. Written consultation procedures call for a prompt preliminary evaluation, a written response within twenty-four hours, and a subsequent presentation to a senior staff geneticist, with an addendum to the consult, as needed. The consultant service fellow presents the most interesting cases from the wards during the Post-Clinic Patient Conference on Wednesday afternoons during which Fellows present interesting clinical cases for critical review. Once a month the fellow presents relevant articles for journal club.
Metropolitan Area Genetics Clinics
Children's Hospital National Medical Center (Required).
During this rotation, fellows have both inpatient and outpatient responsibilities. They function as genetics consultants for inpatients and are involved in the medical management of genetic disorders. They assist in the diagnosis, management, and counseling of outpatients on a daily basis and participate in a series of specialty clinics (held weekly for patients with neurofibromatosis and craniofacial anomalies, and monthly for patients with metabolic disease and skeletal dysplasias). They are also involved in prenatal counseling and attend a weekly conference on prenatal diagnosis. In addition, fellows respond to requests for genetics consults at outside hospitals covered by Children's, and serve as the first-call physician for emergency consults at twenty-four area hospitals for assessment of newborns with malformations. This rotation requires a full-time commitment five days a week, and gives the fellows primary medical responsibility for up to forty new patients, most of them pediatric.
Washington Hospital Center (Required)
This rotation will provide the majority of the fellows experience with pre- and perinatal genetics. Exposure will be to couples and women of reproductive age. Genetic counseling for the purpose of cancer risk assessment in individuals with a strong family history of cancer is also part of this rotation.
Walter Reed Army Medical Center (Required)
This rotation will provide daily clinical experience with children and adults who are served by this military hospital. Fellows respond to requests for genetics consults and have the opportunity to see newborns in the National Naval Medical Center Neonatal Intensive Care Unit as well. Experience in other multidisciplinary specialty clinics such as spina bifida clinic is also available. This rotation requires a full-time commitment, five days a week.
Other Clinical Opportunities: Specialty Clinics at NIH
The specialty clinics of NIH treat a large number of patients with genetic diseases. We have negotiated a supervised experience for some of the fellows at various clinics; to date, fellows have participated in the Cystic Fibrosis Clinic, the Lipid Clinic, and the Endocrine Clinic.
Lectures, Courses and Seminars
The fellowship program includes many lectures, courses and seminars. Among them are a journal club and seminars in medical genetics during which invited speakers discuss research and clinical topics of current interest. In addition, the following four courses have been specifically developed to meet the needs of the fellows:
Introduction to Medical Genetics. A two-semester course, given yearly, required for all first-year fellows
Current Topics in Molecular Genetics and Molecular Diagnostics. A one-semester course, given yearly, required for all second-year fellows
Embryology, Developmental Biology and Human Malformations. A one-semester course, required for all second-year fellows
Inborn Errors of Metabolism. A one-semester course, given every third year, required for all current fellows.
Trainees are encouraged to pursue other opportunities for continuing education such as clinical and basic science conferences, tutorial seminars, and postgraduate courses, which are plentiful on the NIH campus.
Structure of the Research Training Program
Fellows in the Medical Genetics Program pursue state-of-the-art research related to genetic disorders. Descriptions of the diverse interests of participating faculty are provided in this catalog. The aim of this program is to provide fellows with research experiences of the highest caliber and to prepare them for careers as independent clinicians and investigators in medical genetics.
Fellows entering the program are required to select a research supervisor which may be from among those involved on the Genetics Fellowship Faculty Program. It is not required that this selection be made before coming to NIH.
In addition to being involved in research, all fellows attend and participate in weekly research seminars, journal clubs and laboratory conferences, which are required elements of each fellow's individual research experience.
Program Faculty and Research Interests
Sherri J. Bale, PhD. Molecular diagnosis for rare hereditary disorders; clinical genetics; genodermatoses.
Barbara B. Biesecker, MS. Psychological dimensions in cancer genetic testing; effective methods of genetic counseling; models to streamline the educational aspects of genetic counseling.
Leslie G. Biesecker, MD. Signal-transduction receptors in the early embryo; the role of uniparental disomy in multiple congenital anomaly syndromes; Pallister-Hall syndrome, Proteus syndromes.
Donna M. Krasnewich, MD, PhD. Biochemical and clinical aspects of Carbohydrate-deficient glycoprotein syndrome.
William A. Gahl, MD, PhD. Inborn errors of metabolism, lysosomal storage diseases, cystinosis, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome and alkaptonuria.
Donald W. Hadley, MS. Genetic counseling methods, genetic counseling for children and individuals at risk for late onset disorders. Psychological dimensions of testing for cancer predisposition.
Sondra W. Levin MD. Dysmorphology and syndromes with underlying cytogenetic abnormalities.
Jeanne M. Meck, PhD. Classical and molecular cytogenetics for diagnosis of constitutional and acquired chromosome abnormalities.
Maximilian Muenke, MD. Molecular, genetic and clinical aspects of craniosynostoses, holoprosencephaly, and attention deficit hyperactivity disorder (ADHD).
Cynthia J. Tifft, MD, PhD. The natural history of neurofibromatosis type I, gene therapy for lysosomal disorders.
Examples of Papers Authored by Program Faculty
Bamford, R., Roessler, E., Burdine, R.D., Saplakoglu, U., dela Cruz, J., Splitt, M., Goodship, J.A., Towbin, J., Bowers, P., Ferrero, G.B., Marino, B., Schier, A.F., Shen, M.M., Muenke, M, Casey, BM. Loss-of-function mutations in the EGF-CFC gene, CFC1 are associated with human left-right laterality defects. Nature Genet. 26: 365-369, & 501, 2000.
Biesecker B, Ishibe N, Hadley D. et al. Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. Am J Med Genet 93: 257-263, 2000.
Bernhardt B, Bisecker B, Mastromarino C. Goals, benefits and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet 94: 189-197, 2000.
Green M, Biesecker B, McInerney A, Mauger D, Fost N. Use of an interactive computer program to educate patients about genetic testing for breast cancer susceptibility. Am J Med Genet (in press).
Bellus GA, Hefferon TW, Ortiz deLuna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995;56:368-373.
Gripp, K. W., Wotton, D., Edwards, M. C., Roessler, E., Ades, L., Meinecke, P., Richieri-Costa, A., Zackai, E. H., Massague, J., Muenke, M., Elledge, S. J.: Mutations in TGIF, cause holoprosencephaly and link Nodal signaling to human neural axis determination. Nature Genet. 25: 205-208, 2000.
Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Natural history and biochemical and clinical pathologic correlations in Bietti's crystalline dystrophy. Am J Opththalmol 1994;118:569-582.
Stratakis CA, Rennert OM. Turner's syndrome: molecular and cytogenetics, dysmorphology endocrine and other clinical manifestations and their management. Endocrinologist 1994;4:442-453.
Niemela JE, Puck JM, Fischer R, Fleischer TA, Hsu AP. Efficient Detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol 95: 33-38, 2000.
Fanos JK, Davis J, Puck JM. Sib understanding of genetic and attitudes towards carrier testing for X-linked severe combined immunodeficiency. Am J Med Genet 98: 46-56, 2001.
Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocr11, a Ptdlns (4, 5) P2 5-phosphatase is localized to the trans-golgi network of fibroblasts and epithelial cells. J Histochem Cytochem 48: 179-90, 2000.
Greene NDE, Bernard DL, Tascher PEM, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM. A murine model for juvenile NCL: gene targeting of mouse CLn3. Molec Genet Metabol 66: 309-313, 1999.
Krasnewich D, and Gahl WA. Carbohydrate-deficient glycoprotein syndrome. Adv Pediatr 44: 109-140, 1997.
Krasnewich DM, Hill S, Dietrich K, Bauer L, Ginns E and Sidransky E. Splenectomy in Gaucher disease: new management dilemmas. Blood 91 (8): 3085-3087, 1998.
Shevchenko Y, Bale S, Compton J. Efficient mutation screening using automated bidirectional dideoxy finger-printing. BioTechniciques 28: 134-8, 2000.
The following is a partial list of graduates including their current positions:
Allen Bale, MD. Associate Professor and Director, DNA Diagnostic Laboratory, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Sherri Bale, PhD. Clinical Director, GeneDx, Rockville, Maryland.
Y.T. Chen, MD, PhD. Assistant Professor of Pediatrics, Department of Pediatrics, Division of Metabolism, Duke University Medical Center, Durham, North Carolina.
Warren E. Cohen, MD. Head, Clinical Genetics, Division of Human Genetics, Children's Hospital, Los Angeles, California.
Andrew Eisen, MD. Assistant Professor, Department of Pediatrics and Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York.
Neil Epstein, MD, PhD. Chief, Inherited Cardiovascular Disease Section, National Heart, Lung and Blood Institute, Bethesda, Maryland.
Mark I. Evans, MD. Director, Division of Reproductive Genetics, Obstetrics and Gynecology, Wayne State University, Detroit, Michigan.
William A. Gahl, MD, PhD. Clinical Director, National Human Genome Research Institute, Bethesda, Maryland.
Alisa M. Goldstein, PhD. Chief, Population and Statistical Genetics Section, Genetic Epidemiology Branch, National Cancer Institute, Bethesda, MD.
Evelyn Karson, MD, PhD. Director, Prenatal Diagnosis Unit, Columbia Hospital for Women, Washington, District of Columbia.
Donna Krasnewich, MD, PhD. Deputy Clinical Director, National Human Genome Research Institute, Bethesda, MD.
Sondra W. Levin, MD. Chief, Genetics Section, Department of Pediatrics, Walter Reed Army Medical Center.
Joan Marini, MD, PhD. Chief, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland.
Cindy Powell, MS, MD. Assistant Professor, Pediatrics, Division of Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina.
William Rizzo, MD. Professor of Pediatrics and Human Genetics, Medical College of Virginia, Richmond, Virginia.
Cynthia J. Tifft, MD, PhD. Director, Medical Genetics, Children's National Medical Center, Washington, District of Columbia.
The NIH/Metropolitan Washington Medical Genetics Residency Program is accredited by the ACGME and the American Board of Medical Genetics. Upon successful completion of the three year program, residents are eligible for board certification in Clinical Genetics. During the third residency year, residents may elect to complete either (a) the requirements for one of the ABMG laboratory subspecialties, such as Clinical Molecular Genetics, Clinical Biochemical Genetics or Clinical Cytogenetics, or (b) a second one year residency program (e.g., Medical Biochemical Genetics).
Candidates should apply through ERAS, beginning July 1 of the year prior to their anticipated start date. Candidates with the MD or MD and PhD degree must have completed a U.S. residency in a clinically related field. Previous training is usually in, but not limited to, Pediatrics, Internal Medicine or Obstetrics and Gynecology. Four new positions are available each year. Interviews are held during August and September.
The quickest and easiest way to find out more about this training program or to apply for consideration is to do it electronically.
The NIH is dedicated to building a diverse community in its training and employment programs.
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